Global Variome shared LOVD

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Phenotype #0000270835 Individual ID 00375622 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite JDVS Inheritance Isolated (sporadic) Phenotype details see paper; ..., birth weight 4kg; height SD−1.5; weight SD+0.5; OFC SD−0.5; mild/moderate intellectual disability; hypotonia; sensory integration problems; broad forehead; low-set, posteriorly rotated ears; no upturned nose; thin upper lip; broad mouth; neonatal feeding difficulty; gastro esophageal reflux and/or vomiting; constipation; small hands; no hyperlordosis; periodic illnessc; high pain threshold; retractile testes, small genital; hyper-metropia, cilinder, strabismus; hypoplastic toenails; no recurrent infections Age/Examination 5y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-06-14 16:11:36 +02:00 (CEST) Date last edited N/A

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